A48P (p.Ala48Pro) variant of JUP (Junction plakoglobin)
A48P (p.Ala48Pro) in JUP (Junction plakoglobin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular dysplasia 12; Naxos disease. The record also includes published literature and structural context.
A48P (p.Ala48Pro) variant details
- p.Ala48Pro
- rs2544215439
- ClinGen CA399506819
- ClinVar RCV003033585
- Uncertain significance
- Arrhythmogenic right ventricular dysplasia 12; Naxos disease
- Missense
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular dysplasia 12; Naxos disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)